GLB1

OMIMHGNC

Synonym(s): EBP, ELNR1

Locus: 3p22.3

Protein: Beta-galactosidase

 

Disorders

Tests

Test Type
Biochemical (3)
Molecular (82)
Cytogenetic (1)
Multi-Gene Panel (54)
Multi-Method Panel (27)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (21)
Quantitative Biochemical Analysis (3)
Sequencing, Capillary (Sanger) (26)
Genotyping (Microarray, Beads, etc.) (3)
Repeat Expansion / Contraction (3)
Sequencing, Next Gen (55)
Prenatal/Carrier
Prenatal (37)
Carrier (58)
Lab Location
USA(38)
Turkey(2)
Spain(6)
Germany(10)
Portugal(1)
Canada(16)
Poland(5)
Finland(4)
Austria(3)
 
TAT: 3-4 weeks
price: contact lab
GLB1-Related Disorders Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-4 weeks
price: contact lab
Beta-Galactosidase-F
method(s): ◦ Quantitative Biochemical Analysis 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
Beta-Galactosidase-W
method(s): ◦ Quantitative Biochemical Analysis 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
GM1-Gangliosidosis (GLB1 Gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 4-5 weeks
price: contact lab
Mucopolysaccharidosis Type IVB: GLB1 Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
GM1 Gangliosidosis: GLB1 Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
GM1 Gangliosidosis: GLB1 Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Mucopolysaccharidosis Type IVB: GLB1 Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Lysosomal Storage Disorders: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 8-10 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4-6 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-6 weeks
price: contact lab
devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 4-5 weeks
price: contact lab
GLB1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 1-2 days
price: contact lab
GLB1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 7-10 days
price: contact lab
GM1-Gangliosidoses
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
Mucopolysaccharidosis Type IVB , Sequencing GLB1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 10-12 weeks
price: contact lab
Metabolic Storage Disorders Panel Sequencing, 51 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Metabolic Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Epilepsy Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
TAT: 3-4 weeks
price: contact lab
Mucopolysaccharidosis Type IVB Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 2 weeks
price: contact lab
Mucopolysaccharidosis Type IVB Test
method(s): ◦ Quantitative Biochemical Analysis 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 4-6 weeks
price: contact lab
LysoSEEK - Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
GLB1-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
TAT: 8-10 weeks
price: contact lab
NGS Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 8-10 weeks
price: contact lab
NGS Non-immune Hydrops Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
GM1-Gangliosidosis, Type I: GLB1 gene sequence analysis
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 4-6 weeks
price: contact lab
Lysosomal Disorders Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Ataxia and Differential Diagnoses Panel
method(s): ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
GM1 Gangliosidosis (sequence analysis of GLB1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing GLB1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Inherited Metabolic Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Inherited Metabolic Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
GM1 Gangliosidosis: GLB1 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
GM1 Gangliosidosis: GLB1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Lysosomal Storage Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Lysosomal Storage Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Mucopolysaccharidosis Type IVB: GLB1 Gene Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Mucopolysaccharidosis Type IVB: GLB1 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 8-10 weeks
price: contact lab
Comprehensive Neurogenetics Panel (290 genes)
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 8-10 weeks
price: contact lab
Epilepsy Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Pan-Ethnic Carrier Screen: Mutation and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 7-10 days
price: contact lab
Morquio Syndrome Type B
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
Storage and Energetic Metabolism Diseases, Panel Massive Sequencing (NGS) 84 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-4 weeks
price: contact lab
Lysosomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 72 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Comprehensive Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 genes + mtDNA)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 2-4 weeks
price: contact lab
Mucopolysaccharidosis and Mucolipid Disorders (NextGen Sequencing Panel and Copy Number Analysis; 13 genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
GLB1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Lysosomal Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
GM1 Gangliosidosis, Sequencing GLB1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
Mucopolysaccharidosis, Panel Massive Sequencing (NGS) 11 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
Comprehensive Epilepsy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 137 (Pan-Ethnic Intermediate Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
GM1 Gangliosidosis and Mucopolysaccharidosis Type IVB
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA
TAT: 3-4 weeks
price: contact lab
Pan Cardiomyopathy Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Heart Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Metabolism Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Lysosomal Disorders and Mucopolysaccharidosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $690.00
GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via the GLB1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $870.00
GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via the GLB1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $2,580.00
Comprehensive Miscarriage, Stillbirth, and Neonatal Death Panel
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Gangliosidosis (Gangliosidose)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Mucopolysaccharidosis (Mukopolysaccharidose)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Mucopolysaccharidosis (Mukopolysaccharidose)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 3-5 weeks
price: $1,590.00
Miscarriage, Stillbirth, and Neonatal Death Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 8-10 weeks
price: contact lab
Progressive and non-progressive ataxia
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 8-10 weeks
price: contact lab
Dystonia panel
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: 8-10 weeks
price: contact lab
Developmental regression/dementia/psychosis panel
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
TAT: ~2 weeks
price: contact lab
Mucopolysaccharidosis type 4B
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
GM1-gangliosidosis type 1
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
GM1-gangliosidosis type 2
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
GM1-gangliosidosis
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Pan-European Carrier Screening
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Peroxisomal and Lysosomal Diseases, Panel Massive Sequencing (NGS) 80 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA